Variant report

Variant	rs747347
Chromosome Location	chr7:16815345-16815346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr7:16815098-16815364	GM12878	blood:	n/a	chr7:16815192-16815203

Variant related genes	Relation type
TSPAN13	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233465	0.80[CEU][hapmap]
rs1149526	0.84[CEU][hapmap]
rs12540544	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13232235	0.81[EUR][1000 genomes]
rs2290836	0.96[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2290837	0.96[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3807492	0.96[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3807493	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs3823652	0.87[CEU][hapmap]
rs4721538	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs4721539	0.91[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6461275	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs6461276	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808455	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:16802800-16817800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:16803600-16818000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:16803800-16825600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:16805200-16815600	Weak transcription	Fetal Brain Female	brain
9	chr7:16805200-16815800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:16806400-16821400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:16810800-16815400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:16810800-16823200	Weak transcription	Psoas Muscle	Psoas
13	chr7:16810800-16825000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:16811000-16815400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:16811000-16817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:16811200-16816000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:16811400-16815400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:16811400-16815400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:16811400-16815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:16811400-16821800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:16811400-16833600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:16811600-16817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:16811600-16820800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:16811600-16825000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:16811800-16824800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:16812000-16817800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:16812400-16821600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:16812800-16821000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:16813800-16816600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:16813800-16825000	Weak transcription	Stomach Mucosa	stomach
31	chr7:16814000-16815400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:16814000-16834600	Weak transcription	Fetal Brain Male	brain
33	chr7:16814200-16818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:16814200-16821200	Weak transcription	Left Ventricle	heart
35	chr7:16814200-16824800	Weak transcription	Osteobl	bone
36	chr7:16814200-16825400	Weak transcription	Gastric	stomach
37	chr7:16814200-16826400	Weak transcription	Right Ventricle	heart
38	chr7:16814400-16843800	Weak transcription	Small Intestine	intestine
39	chr7:16815000-16817600	Strong transcription	Primary B cells from cord blood	blood
40	chr7:16815000-16838000	Weak transcription	K562	blood
41	chr7:16815200-16816000	Enhancers	Pancreas	Pancrea

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